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Polymorphism and infection

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https://www.readbyqxmd.com/read/29777223/card9-s12n-facilitates-the-production-of-il-5-by-alveolar-macrophages-for-the-induction-of-type-2-immune-responses
#1
Xia Xu, Jin-Fu Xu, Guoxing Zheng, Hai-Wen Lu, Jie-Lin Duan, Wei Rui, Jian-Hong Guan, Li-Qing Cheng, Dan-Dan Yang, Ming-Chao Wang, Quan-Zhen Lv, Jian-Xiong Li, Xueqiang Zhao, Chun-Xia Chen, Peng Shi, Xin-Ming Jia, Xin Lin
The adaptor CARD9 functions downstream of C-type lectin receptors (CLRs) for the sensing of microbial infection, which leads to responses by the TH 1 and TH 17 subsets of helper T cells. The single-nucleotide polymorphism rs4077515 at CARD9 in the human genome, which results in the substitution S12N (CARD9S12N ), is associated with several autoimmune diseases. However, the function of CARD9S12N has remained unknown. Here we generated CARD9S12N knock-in mice and found that CARD9S12N facilitated the induction of type 2 immune responses after engagement of CLRs...
May 18, 2018: Nature Immunology
https://www.readbyqxmd.com/read/29775826/atypical-virulence-in-a-type-iii-toxoplasma-gondii-strain-isolated-in-japan
#2
Yuji Taniguchi, Cornelia Appiah-Kwarteng, Mami Murakami, Junpei Fukumoto, Kisaburo Nagamune, Tomohide Matsuo, Tatsunori Masatani, Hirotaka Kanuka, Tokio Hoshina, Katsuya Kitoh, Yasuhiro Takashima
The virulence of a type III Toxoplasma gondii strain isolated in Japan and designated here as TgCatJpGi1/TaJ was examined in mice and micro minipigs in this study. Despite its type III genotype, oral or intraperitoneal inoculation of cysts from it resulted in severe virulence in C57BL/6J and BALB/c mice. In contrast, mice inoculated with a high dose of TgCatJpGi1/TaJ tachyzoites showed no obvious clinical signs of infection, and all of them survived for >21 days post-inoculation. Furthermore, no clinical signs of infection were seen when micro minipigs were inoculated with 900 cysts...
May 15, 2018: Parasitology International
https://www.readbyqxmd.com/read/29775784/genome-wide-association-mapping-of-virulence-gene-in-rice-blast-fungus-magnaporthe-oryzae-using-a-genotyping-by-sequencing-approach
#3
Siripar Korinsak, Sithichoke Tangphatsornruang, Wirulda Pootakham, Samart Wanchana, Anucha Plabpla, Chatchawan Jantasuriyarat, Sujin Patarapuwadol, Apichart Vanavichit, Theerayut Toojinda
Magnaporthe oryzae is a fungal pathogen causing blast disease in many plant species. In this study, Seventy three isolates of M. oryzae collected from rice (Oryza sativa) in 1996-2014 were genotyped using a genotyping-by-sequencing approach to detect genetic variation. Association study was performed to identify single nucleotide polymorphism (SNP) associated with virulence genes using 831 selected SNP and infection phenotypes on local and improved rice varieties. Population structure analysis revealed eight subpopulations...
May 15, 2018: Genomics
https://www.readbyqxmd.com/read/29775551/pharmacogenetic-associations-with-cytochrome-p450-in-antiretroviral-therapy-what-does-the-future-hold
#4
Gabriel Stillemans, Leila Belkhir, Dennis A Hesselink, Vincent Haufroid, Laure Elens
Several antiretroviral drugs used to treat infection with the Human Immunodeficiency Virus (HIV) are substrates of enzymes belonging to the cytochrome P450 (CYP) superfamily, which are polymorphically expressed. It may therefore be useful to take into account the genetic variation in these enzymes to predict the likelihood of anti-HIV treatment success, toxicity and the potential for drug-drug interactions. Areas covered: In this manuscript, the authors discuss the current state of knowledge regarding pharmacogenetic associations between CYP and all major antiretrovirals, as well as the importance of these associations...
May 18, 2018: Expert Opinion on Drug Metabolism & Toxicology
https://www.readbyqxmd.com/read/29773136/molecular-characterization-of-echinococcus-species-in-dogs-from-four-regions-of-kenya
#5
Erastus Mulinge, Japhet Magambo, David Odongo, Sammy Njenga, Eberhard Zeyhle, Cecilia Mbae, Dorothy Kagendo, Francis Addy, Dennis Ebi, Marion Wassermann, Peter Kern, Thomas Romig
Cystic echinococcosis is endemic both in livestock and humans in many parts of Kenya. However, very little data exists on Echinococcus infections in dogs, and therefore their role in maintaining the transmission cycles and environmental contamination with eggs of Echinococcus species is unknown. The study aimed to establish the prevalence and distribution of Echinococcus granulosus sensu lato causing infection in dogs in Kenya. A total of 1621 dog faecal samples were collected from the environment in four different regions and examined microscopically for the presence of taeniid eggs...
May 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29770660/-genotyping-and-gene-nucleotide-polymorphism-of-epidemic-strain-of-echinococcus-granulosus-metacestode-from-humans-and-sheep-in-tianjun-region-qinghai-province
#6
Zhang Xue-Yong, Jian Ying-Na, Li Xiu-Ping, Han Xiu-Ming, Caidan Zhuo-Ma, Li Fu-Shou, Ma Li-Qing
OBJECTIVE: To understand the genotypes and nucleotide polymorphisms of Echinococcus granulosus metacestode from humans and sheep in Tianjun region, Qinghai Province. METHODS: The specific primers were designed according to the cox1 and nad1 genes of E. granulosus mitochondrial genome sequences accessed by GenBank. The primers were used to detect the cyst samples from 16 sheep and 2 humans infected with E. granulosus in Tianjun region of Qinghai Province by PCR, then the PCR amplification products were sequenced, the genotypes and nucleotide polymorphisms of the cox1 and nad1 genes were analyzed...
March 12, 2018: Zhongguo Xue Xi Chong Bing Fang Zhi za Zhi, Chinese Journal of Schistosomiasis Control
https://www.readbyqxmd.com/read/29770580/q969r-polymorphism-in-nlrp3-is-associated-with-immune-responses-to-vaccination-against-bacterial-infections-in-pigs
#7
Hiroki Shinkai, Kei Terada, Daisuke Toki, Masanori Tohno, Hirohide Uenishi
Nucleotide-binding domain, leucine-rich-containing family, pyrin-domain containing-3 (NLRP3) is an important pattern recognition receptor involved in various inflammatory responses and adjuvant effects upon vaccination. We previously identified the Q969R (A2906G) gain-of-function polymorphism in porcine NLRP3, which increased production of interleukin-1β in in vitro gene transfection experiments. Here, we explored the associations between the A2906G polymorphism and antibody responses after vaccination against bacteria in Large White pigs maintained under specific pathogen-free conditions...
May 17, 2018: Animal Science Journal, Nihon Chikusan Gakkaihō
https://www.readbyqxmd.com/read/29770278/-2tm-proteins-an-antigenically-diverse-superfamily-with-variable-functions-and-export-pathways
#8
Jasweer Kaur, Rachna Hora
Malaria is a disease that affects millions of people annually. An intracellular habitat and lack of protein synthesizing machinery in erythrocytes pose numerous difficulties for survival of the human pathogen Plasmodium falciparum . The parasite refurbishes the infected red blood cell (iRBC) by synthesis and export of several proteins in an attempt to suffice its metabolic needs and evade the host immune response. Immune evasion is largely mediated by surface display of highly polymorphic protein families known as variable surface antigens...
2018: PeerJ
https://www.readbyqxmd.com/read/29766002/influence-of-vitamin-d-receptor-gene-polymorphisms-on-response-to-pegylated-interferon-in-chronic-hepatitis-b-egyptian-patients
#9
Gomaa Mostafa-Hedeab, Dina Sabry, Ghada Mostafa Abdelaziz, Manal Ewaiss, Nagla Adli, Wael Fathy
Background: We explored the effect of vitamin D receptor gene ( VDR ) polymorphisms in response to PEG-IFN treatment in Egyptian chronic hepatitis B (CHB) patients. Methods: Two hundred hepatitis B virus (HBV) patients (42.3±10.7 years) on PEG-IFN α-2a (180 µg /kg for 48 weeks) and one hundred control subjects (37.3 ±12 years) were enrolled in the study. Vitamin D levels and hepatitis B surface antigen (HBsAg) expression were assessed by ELISA. VDR polymorphisms FokI T>C (rs 10735810), BsmI A>G (rs 1544410), ApaI (rs7975253), and TaqI C>T (rs 731236), were genotyped using real-time PCR...
April 2018: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29765999/genetic-variability-of-antigen-b8-1-among-echinococcus-granulosus-isolates-from-human-cattle-and-sheep-in-fars-province-southern-iran
#10
Asieh Fatemi Esfedan, Bahador Sarkari, Fataneh Mikaeili
Background: Cystic echinococcosis (CE), known as hydatid cyst, is a zoonotic parasitic infection caused by the larval stage of Echinococcus granulosus (E. granulosus) . Antigen B, the major component of hydatid cyst fluid, is encoded by members of a multigene family. The present study aimed to evaluate the genetic diversity of the gene encoding antigen B8/1 ( EgAgB8/1 ) among the main intermediate hosts of E. granulosus . Methods: Twenty-eight hydatid cyst isolates (10 sheep, 9 human, and 9 cattle) were collected in Fars province, Iran...
April 2018: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29763933/the-calcium-sensing-receptor-gene-polymorphism-rs1801725-and-calcium-related-phenotypes-in-hemodialysis-patients
#11
Alicja E Grzegorzewska, Dariusz Bednarski, Monika Świderska, Adrianna Mostowska, Paweł P Jagodziński
BACKGROUND/AIMS: The calcium-sensing receptor gene (CASR) rs1801725 variant is responsible for a non-conservative amino-acid change (A986S) in the calcium-sensing receptor cytoplasmic tail. We hypothesized that rs1801725 polymorphism might be helpful in understanding Ca-related abnormalities in HD patients. METHODS: In 1215 subjects (245 on cinacalcet), we determined the associations of rs1801725 with secondary hyperparathyroidism (sHPT)-related laboratory parameters, PTH-decreasing effect of cinacalcet hydrochloride, coronary artery disease (CAD), myocardial infarction (MI), nephrolithiasis-related ESRD, and mortality...
May 10, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29760828/periodontal-infectogenomics
#12
REVIEW
Gurjeet Kaur, Vishakha Grover, Nandini Bhaskar, Rose Kanwaljeet Kaur, Ashish Jain
Periodontal diseases are chronic infectious disease in which the pathogenic bacteria initiate the host immune response leading to the destruction of tooth supporting tissue and eventually result in the tooth loss. It has multifactorial etiological factors including local, systemic, environmental and genetic factors. The effect of genetic factors on periodontal disease is already under extensive research and has explained the role of polymorphisms of immune mediators affecting disease response. The role genetic factors in pathogens colonisation is emerged as a new field of research as "infectogenomics"...
2018: Inflammation and Regeneration
https://www.readbyqxmd.com/read/29760702/emerging-concepts-in-immune-thrombocytopenia
#13
REVIEW
Maurice Swinkels, Maaike Rijkers, Jan Voorberg, Gestur Vidarsson, Frank W G Leebeek, A J Gerard Jansen
Immune thrombocytopenia (ITP) is an autoimmune disease defined by low platelet counts which presents with an increased bleeding risk. Several genetic risk factors (e.g., polymorphisms in immunity-related genes) predispose to ITP. Autoantibodies and cytotoxic CD8+ T cells (Tc) mediate the anti-platelet response leading to thrombocytopenia. Both effector arms enhance platelet clearance through phagocytosis by splenic macrophages or dendritic cells and by induction of apoptosis. Meanwhile, platelet production is inhibited by CD8+ Tc targeting megakaryocytes in the bone marrow...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29760129/pharmacokinetic-changes-during-pregnancy-according-to-genetic-variants-a-prospective-study-in-hiv-infected-patients-receiving-atazanavir-ritonavir
#14
Emanuele Focà, Andrea Calcagno, Andrea Bonito, Jessica Cusato, Elisabetta Domenighini, Antonio D'Avolio, Eugenia Quiros Roldan, Laura Trentini, Filippo Castelnuovo, Giovanni Di Perri, Francesco Castelli, Stefano Bonora
Atazanavir/ritonavir concentrations change over pregnancy in HIV-positive patients; the impact of genetic variants is unknown. 20 patients were enrolled: antiretrovirals' plasma and intracellular concentrations were measured in addition to single nucleotide polymorphisms in transport affecting genes. Linear logistic regression showed that genetic variants in organic-anion-transporter-1B1 and pregnane-X-receptor encoding genes affected third trimester atazanavir exposure. In this prospective study genetic variants partially explained the observed inter-patient variability in third-trimester antiretrovirals' exposure...
May 14, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29757702/genetic-diversity-of-toxoplasma-gondii-isolates-from-free-range-chickens-in-bahia-brazil
#15
Daniele Santana Rocha, Mariana Guimarães Nilsson, Bianca Mendes Maciel, Hilda Fátima de Jesus Pena, Bruna Farias Alves, Aristeu Vieira Silva, Luís Fernando Pita Gondim, George Rego Albuquerque
In the present work, genotyping of 25 isolates of Toxoplasma gondii from free-range chickens in the State of Bahia was performed by means of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique using eleven genetic markers (SAG1, 5'+3'SAG2, alt.SAG2, SAG3, BTUB, GRA6, c22-8, c29-2, L358, PK1, Apico and CS3). The analysis revealed eight genotypes, three of which had never been previously reported. Four genotypes were represented by single isolates, while the others by two or more isolates...
May 15, 2018: Journal of Parasitology
https://www.readbyqxmd.com/read/29755645/hepatic-steatosis-in-chronic-hepatitis-b-a-study-of-metabolic-and-genetic-factors
#16
Michael O Baclig, Karen G Reyes, Veni R Liles, Cynthia A Mapua, Mark Pierre S Dimamay, Juliet Gopez-Cervantes
Hepatic steatosis is a common finding in liver biopsy and may co-exist with chronic hepatitis B (CHB) infection. The aims of this study were to determine the prevalence of steatosis in CHB patients among Filipinos; determine the factors related to the presence of steatosis among individuals with and without CHB infection; and to investigate the possible association between steatosis and polymorphism in interleukin 28B (IL28B) gene. The presence of steatosis was correlated with clinical, biochemical and histological parameters...
2018: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/29755435/analysis-of-phylogenetic-variation-of-stenotrophomonas-maltophilia-reveals-human-specific-branches
#17
Joerg Steinmann, Uwe Mamat, Ebrahim M Abda, Lisa Kirchhoff, Wolfgang R Streit, Ulrich E Schaible, Stefan Niemann, Thomas A Kohl
Stenotrophomonas maltophilia is a non-fermenting Gram-negative bacterium that is ubiquitous in the environment. In humans, this opportunistic multi-drug-resistant pathogen is responsible for a plethora of healthcare-associated infections. Here, we utilized a whole genome sequencing (WGS)-based phylogenomic core single nucleotide polymorphism (SNP) approach to characterize S. maltophilia subgroups, their potential association with human infection, and to detect any possible transmission events. In total, 89 isolates (67 clinical and 22 environmental) from Germany were sequenced...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29755014/diagnosis-of-cirrhosis-in-patients-with-chronic-hepatitis-c-genotype-4-role-of-abcb11-genotype-polymorphism-and-plasma-bile-acid-levels
#18
Tarek Besheer, Mona Arafa, Mohamed Abd El-Maksoud, Hatem Elalfy, Amany Hasson, Khaled Zalata, Wagdi Elkashef, Heba Elshahawy, Doaa Raafat, Wafaa Elemshaty, Eman Elsayed, Hosam Zaghloul, Ahmed Abdel Razek, Mahmoud El-Bendary
BACKGROUND/AIMS: Chronic hepatitis C (CHC)-related mortality generally results from cirrhosis and subsequent complications. We aimed to investigate the potential role of plasma bile acid levels and ABCB11 1331T > C (V444A, rs2287622) (ATP-binding cassette subfamily B, member 11) gene polymorphism in fibrosis prediction in CHC genotype 4 patients. MATERIALS AND METHODS: This case control study included 85 healthy control and the following 225 subjects: 170 adult patients infected with hepatitis C virus (HCV) and categorized into three groups according to liver biopsy; no fibrosis group (F0) (n=33), early fibrosis group (F1-F2) (n=61), and advanced fibrosis group (F3-F4) (n=76)...
May 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29755012/association-of-a-single-nucleotide-polymorphism-in-the-tlr2-gene-rs3804099-but-not-in-the-tlr4-gene-rs4986790-with-helicobacter-pylori-infection-and-peptic-ulcer
#19
Ehsan Mirkamandar, Maryam Nemati, Mohammad Mehdi Hayatbakhsh, Arezu Bassagh, Arezu Khosravimashizi, Abdollah Jafarzadeh
BACKGROUND/AIMS: Toll-like receptors (TLRs), particularly TLR2 and TLR4, take part in elicitation of immune responses against Helicobacter pylori (H. pylori). This study aimed to investigate the relationship between single nucleotide polymorphisms (SNP) rs3804099 in the TLR2 gene and rs4986790 in the TLR4 gene with H. pylori infection and peptic ulcer (PU). MATERIALS AND METHODS: Blood specimens were obtained from 350 individuals, including 100 H. pylori-infected patients with PU, 125 H...
May 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/29754263/genes-and-their-single-nucleotide-polymorphism-involved-in-innate-immune-response-in-central-nervous-system-in-bacterial-meningitis-review-of-literature-data
#20
REVIEW
Ewelina Gowin, Danuta Januszkiewicz-Lewandowska
BACKGROUND: There are many studies analysing the effect of SNPs in genes coding proteins which are involved in innate immune response on susceptibility to invasive bacterial disease. Many of them gave inconclusive results. Regarding the complexity of immune response and cooperation between particular elements, number of SNPs may have a cumulative effect on the susceptibility to bacterial meningitis. FINDINGS: In most studies cooccurrence of several SNPs was not analysed...
May 12, 2018: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
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